Variant report

Variant	rs34317277
Chromosome Location	chr11:5782186-5782187
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:5782122-5782194	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
OR56B2P	TF binding region

Extended variants
information (count: 136 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1032648	1.00[ASN][1000 genomes]
rs1032649	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11039100	0.83[ASN][1000 genomes]
rs11039101	0.83[ASN][1000 genomes]
rs11039110	0.83[ASN][1000 genomes]
rs11039115	0.83[ASN][1000 genomes]
rs11039116	0.83[ASN][1000 genomes]
rs11039117	0.83[ASN][1000 genomes]
rs11039118	0.83[ASN][1000 genomes]
rs11039120	0.83[ASN][1000 genomes]
rs11039121	0.83[ASN][1000 genomes]
rs11039164	0.81[ASN][1000 genomes]
rs11826964	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11828490	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12362071	0.83[ASN][1000 genomes]
rs12362742	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12362750	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12363725	0.86[ASN][1000 genomes]
rs12363853	0.83[ASN][1000 genomes]
rs12363855	0.83[ASN][1000 genomes]
rs12364119	0.88[ASN][1000 genomes]
rs12364223	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364265	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364563	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12365564	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12365568	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12366070	0.83[ASN][1000 genomes]
rs12791839	0.83[ASN][1000 genomes]
rs12792672	0.81[ASN][1000 genomes]
rs12792905	0.83[ASN][1000 genomes]
rs12792952	0.83[ASN][1000 genomes]
rs12793142	0.81[ASN][1000 genomes]
rs12793267	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12798822	0.83[ASN][1000 genomes]
rs12798823	0.83[ASN][1000 genomes]
rs1470872	0.83[ASN][1000 genomes]
rs1470873	0.83[ASN][1000 genomes]
rs1498557	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1498558	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2047461	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2047462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34037040	0.84[ASN][1000 genomes]
rs34123108	0.84[ASN][1000 genomes]
rs34161300	0.83[ASN][1000 genomes]
rs34286221	0.84[ASN][1000 genomes]
rs34818213	0.84[ASN][1000 genomes]
rs34930440	0.83[ASN][1000 genomes]
rs35466594	0.83[ASN][1000 genomes]
rs35746872	0.83[ASN][1000 genomes]
rs35863959	0.84[ASN][1000 genomes]
rs35863965	0.83[ASN][1000 genomes]
rs35916605	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35990969	0.83[ASN][1000 genomes]
rs4280027	0.83[ASN][1000 genomes]
rs4319539	0.83[ASN][1000 genomes]
rs4414254	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4474469	0.83[ASN][1000 genomes]
rs4561239	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4597095	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4636704	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4636705	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5012842	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5012843	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61875860	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61875861	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61875862	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61875914	0.83[ASN][1000 genomes]
rs61875915	0.83[ASN][1000 genomes]
rs72896130	0.84[ASN][1000 genomes]
rs968991	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs968992	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:65 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
6	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
8	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv553277	chr11:5722948-6010075	Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	esv1843296	chr11:5730377-5970717	Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv2758255	chr11:5730377-5970717	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	esv2759801	chr11:5730377-6007613	ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
13	nsv896950	chr11:5740634-5827540	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
14	nsv832058	chr11:5747594-5926814	Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
15	esv1817137	chr11:5759141-5809172	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	esv1805431	chr11:5760056-5809358	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
17	esv1820513	chr11:5760106-5809230	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
18	nsv553288	chr11:5760106-5809811	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv553292	chr11:5760172-5809230	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv553295	chr11:5760947-5805515	Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
21	esv33342	chr11:5770370-5784484	Inactive region	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv1055011	chr11:5770388-5812348	Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	nsv896951	chr11:5773981-5832191	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv553306	chr11:5775730-5805515	Inactive region	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
25	nsv1035915	chr11:5776528-5809127	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
26	nsv1050906	chr11:5776528-5809449	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
27	esv1823465	chr11:5776595-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
28	nsv553307	chr11:5776595-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
29	esv2757421	chr11:5776623-5842356	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
30	nsv1044755	chr11:5776980-5809449	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
31	esv1826181	chr11:5777023-5809477	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
32	esv1798649	chr11:5777096-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
33	esv1801544	chr11:5777096-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
34	esv1822319	chr11:5777096-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
35	esv1823568	chr11:5777096-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
36	nsv553308	chr11:5777210-5802352	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
37	nsv519652	chr11:5777210-5805515	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
38	nsv553309	chr11:5777210-5805515	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
39	esv1796638	chr11:5777210-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
40	esv1820335	chr11:5777210-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
41	nsv553310	chr11:5777210-5808353	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
42	esv1815747	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
43	esv1820672	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
44	esv1824660	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
45	esv1825833	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
46	esv1838023	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
47	nsv553311	chr11:5777210-5809230	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
48	nsv511480	chr11:5777210-5809477	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
49	nsv1039011	chr11:5778010-5809127	Inactive region	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
50	nsv1051711	chr11:5778010-5809449	Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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